Mucopolysaccharideosis, Gaucher, Fabry
Gene: NEU1
NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to a green expert review, information on OMIM and is a confirmed gene on G2P for sialidosis. Mode of inheritance confirmed on G2P and OMIM.Created: 29 Feb 2016, 6:28 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Sialidosis, type I, OMIM:256550
- Sialidosis, type II, OMIM:256550
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Proteinuric renal disease
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Hereditary ataxia, adult onset
- Fetal hydrops
- DDG2P
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
History Filter Activity
1 May 2025, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NEU1 were changed from Sialidosis; Sialidosis, type I; Sialidosis type II; Mucolipidosis, Type I to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550
29 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Feb 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NEU1 were set to Sialidosis; Sialidosis, type I; Sialidosis type II; Mucolipidosis, Type I
29 Feb 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NEU1 were set to PMID: 8985184; 11063730; 11829139; 14695530
29 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
3 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NEU1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services